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   Articles with "repeat associated" as a keyword



Measuring Repeat-Associated Non-AUG (RAN) Translation.

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recommendations! Published in 2022 at "Methods in molecular biology"

DOI: 10.1007/978-1-0716-1975-9_8

Abstract: Expansions of short nucleotide repeats account for more than 50 neurological or neuromuscular diseases. Many repeat expansion-containing RNAs can generate toxic repeat proteins through repeat-associated non-AUG (RAN) translation in all the reading frames. Understanding how… read more here.

Keywords: repeat associated; associated non; ran translation; non aug ... See more keywords

The Hairpin Form of r(G4C2)exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules.

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recommendations! Published in 2019 at "Cell chemical biology"

DOI: 10.1016/j.chembiol.2018.10.018

Abstract: The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is an expanded G4C2 repeat [(G4C2)exp] in C9ORF72. ALS/FTD-associated toxicity has been traced to the RNA transcribed from the repeat expansion… read more here.

Keywords: associated non; g4c2 exp; g4c2; repeat associated ... See more keywords

Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders

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recommendations! Published in 2021 at "Biochemical Society Transactions"

DOI: 10.1042/bst20200690

Abstract: Repeat-associated non-AUG (RAN) translation was discovered in 2011 in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1). This non-canonical form of translation occurs in all reading frames from both coding and non-coding… read more here.

Keywords: translation; repeat; expansion disorders; repeat associated ... See more keywords

Non-canonical initiation factors modulate repeat-associated non-AUG translation.

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac021

Abstract: Repeat associated non-AUG (RAN) translation of expanded repeat mutation mRNA produces toxic peptides in neurons of patients suffering from neurodegenerative diseases. Recent findings indicate that RAN translation in diverse model systems is not inhibited by… read more here.

Keywords: associated non; repeat; repeat associated; non aug ... See more keywords

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats

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recommendations! Published in 2024 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkae137

Abstract: Abstract A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS).… read more here.

Keywords: repeat; non aug; translation; repeat associated ... See more keywords